cstb[All Fields] AND 1[has_clinical] - dbVar

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Number of Variants: 20

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv5673339	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr21: 45,194,083-45,196,150 , GRCh38.p12 chr21: 43,774,202-43,776,269	CSTB
nsv3883316	copy number variation	1	nstd102	human	Uncertain significance	GRCh38 chr21: 43,774,182-43,776,289 , GRCh37 chr21: 45,194,063-45,196,170	CSTB
nsv4683789	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr21: 45,192,546-45,197,256 , GRCh38.p12 chr21: 43,772,665-43,777,375	CSTB, LOC105372825
nsv3923176	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr21: 7,817,158-46,670,440 , NCBI36 chr21: 14,406,909-46,914,780 , GRCh37 chr21: 15,485,038-48,090,352	CSTB, COL18A1-AS2, 682 more genes
nsv3905423	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr21: 15,538,655-48,080,926 , GRCh38.p12 chr21: 14,166,334-46,661,014	CSTB, MTND5P1, 581 more genes
nsv3913105	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr21: 36,162,250-48,056,450 , GRCh38 chr21: 34,789,953-46,636,538 , NCBI36 chr21: 35,084,120-46,880,878	CSTB, KRTAP10-12, 287 more genes
nsv3908171	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr21: 37,914,123-48,097,372 , GRCh38.p12 chr21: 36,541,825-46,677,460	CSTB, AIRE, 256 more genes
nsv3908653	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr21: 38,699,545-48,097,372 , GRCh38.p12 chr21: 37,327,243-46,677,460	CSTB, MIR6070, 239 more genes
nsv3918954	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr21: 37,963,800-46,915,400 , GRCh38 chr21: 37,669,628-46,671,060 , GRCh37 chr21: 39,041,930-48,090,972	CSTB, LCA5L, 236 more genes
nsv3923914	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr21: 40,188,323-48,097,372 , NCBI36 chr21: 39,110,193-46,921,800 , GRCh38 chr21: 38,816,399-46,677,460	CSTB, RNU6-1149P, 219 more genes
nsv3904283	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr21: 41,254,101-48,097,372 , GRCh38.p12 chr21: 39,882,175-46,677,460	CSTB, C2CD2, 188 more genes
nsv3914376	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr21: 40,550,036-46,944,323 , GRCh37.p13 chr21: 41,628,166-48,119,895 , GRCh38.p12 chr21: 40,256,239-46,699,983	CSTB, PRMT2, 187 more genes
nsv3911560	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr21: 41,667,952-48,090,352 , NCBI36 chr21: 40,589,822-46,914,780 , GRCh38 chr21: 40,296,025-46,670,440	CSTB, LOC102723380, 186 more genes
nsv3896855	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr21: 42,335,622-48,097,372 , GRCh38.p12 chr21: 40,963,696-46,677,460	CSTB, ZBTB21, 181 more genes
nsv3908049	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr21: 42,410,406-48,097,372 , GRCh38.p12 chr21: 41,038,480-46,677,460	CSTB, TRPM2, 181 more genes
nsv3910187	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr21: 42,657,128-48,090,317 , GRCh38 chr21: 41,285,201-46,670,405 , NCBI36 chr21: 41,578,998-46,914,745	CSTB, COL18A1, 177 more genes
nsv6315496	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr21: 42,679,089-48,097,372 , GRCh38.p12 chr21: 41,307,162-46,677,460	CSTB, TMEM97P1, 177 more genes
nsv4360463	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr21: 41,537,095-46,914,745 , GRCh38.p12 chr21: 40,165,168-45,494,831	CSTB, RRP1, 159 more genes
nsv3912745	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr21: 42,026,869-46,915,400 , GRCh38 chr21: 41,733,640-46,671,060 , GRCh37 chr21: 43,153,800-48,090,972	CSTB, KRTAP10-13P, 165 more genes
nsv3918955	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr21: 39,375,937-44,246,148 , NCBI36 chr21: 39,669,733-44,490,459 , GRCh37 chr21: 40,747,863-45,666,031	CSTB, LINC01678, 114 more genes

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Number of Variants: 20

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dbVar

Result Filters

Object Type

Organism

Variant Type

Method Type

Clinical Interpretation

Has Clinical Interpretation

Sex of Subject

Origin

Study Type

Subject Phenotype Status

Additional filters

Search results

Items: 1 to 20 of 83

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Number of Variants: 20

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